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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:lactic acidosis
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Accession:DOID:3650 term browser browse the term
Definition:A metabolic acidosis characterized by buildup of lactate. (DO)
Synonyms:narrow_synonym: SEIZURES AND LACTIC ACIDOSIS
 primary_id: MESH:D000140
 xref: EFO:1000036;   ICD10CM:E87.20;   NCI:C98969
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
lactic acidosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoo apolipoprotein O ISO ClinVar Annotator: match by term: Lactic acidosis ClinVar NCBI chr  X:59,157,971...59,262,940
Ensembl chr  X:63,151,814...63,256,690 		JBrowse link
G Atp5f1a ATP synthase F1 subunit alpha ISO ClinVar Annotator: match by term: Lactic acidosis ClinVar PMID:24954817 PMID:25741868 PMID:34483339 PMID:34954817 NCBI chr18:73,567,537...73,575,473
Ensembl chr18:73,567,526...73,575,922 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO ClinVar Annotator: match by term: Lactic acidosis ClinVar PMID:10448086 PMID:15712224 PMID:17404228 PMID:21558426 PMID:21930696 More... NCBI chr 6:53,631,686...53,655,059
Ensembl chr 6:53,619,631...53,652,354 		JBrowse link
G Dnm1l dynamin 1-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:17460227 NCBI chr11:98,084,049...98,135,663
Ensembl chr11:98,085,397...98,137,420 		JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Seizures and lactic acidosis ClinVar PMID:8739943 PMID:12915481 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,904...8,584 		JBrowse link
G Mt-co3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: Seizures and lactic acidosis ClinVar PMID:8739943 PMID:12915481 NCBI chr MT:8,599...9,382
Ensembl chr MT:8,584...9,367 		JBrowse link
G Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISS MouseDO NCBI chr MT:13,543...14,061
Ensembl chr MT:13,531...14,049 		JBrowse link
G Ndufa13 NADH:ubiquinone oxidoreductase subunit A13 ISO ClinVar Annotator: match by term: Lactic acidosis ClinVar PMID:25741868 PMID:32722639 NCBI chr16:19,560,526...19,567,500
Ensembl chr 7:32,257,006...32,257,492 		JBrowse link
G Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 ISO ClinVar Annotator: match by term: Lactic acidosis ClinVar PMID:25741868 PMID:33093004 NCBI chr 2:47,684,420...47,794,914
Ensembl chr 2:47,684,406...47,794,931 		JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2537010 NCBI chr  X:38,509,158...38,522,986
Ensembl chr  X:38,509,084...38,522,536 		JBrowse link
G Plat plasminogen activator, tissue type ISO CTD Direct Evidence: therapeutic CTD PMID:25331496 NCBI chr16:75,943,061...76,022,037
Ensembl chr16:75,943,064...75,967,696 		JBrowse link
G Pygl glycogen phosphorylase L IAGP DNA:mutation:multiple RGD PMID:17705025 RGD:11071447 NCBI chr 6:94,433,558...94,476,219
Ensembl chr 6:94,426,346...94,476,269 		JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19138848 NCBI chr 7:70,962,008...70,993,726
Ensembl chr 7:70,965,590...70,993,670 		JBrowse link
G Uqcrfs1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 ISO ClinVar Annotator: match by term: Lactic acidosis ClinVar PMID:31883641 NCBI chr17:34,173,787...34,190,952
Ensembl chr17:34,173,833...34,190,950 		JBrowse link
combined oxidative phosphorylation deficiency 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrps16 mitochondrial ribosomal protein S16 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CORPUS CALLOSUM, AGENESIS OF, WITH DYSMORPHISM AND FATAL LACTIC ACIDOSIS | ClinVar Annotator: match by term: MRPS16-related condition 		OMIM
CTD
ClinVar		 PMID:15505824 PMID:18539099 PMID:25741868 PMID:28492532 PMID:28749478 NCBI chr15:3,967,809...3,970,211
Ensembl chr15:3,968,054...3,970,185 		JBrowse link
combined oxidative phosphorylation deficiency 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Avil advillin ISO ClinVar Annotator: match by term: Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 ClinVar PMID:25741868 NCBI chr 7:64,711,294...64,729,436
Ensembl chr 7:64,711,403...64,729,436 		JBrowse link
G Tsfm Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | ClinVar Annotator: match by term: TSFM-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17033963 PMID:17576681 PMID:20435138 More... NCBI chr 7:64,714,330...64,750,106
Ensembl chr 7:64,714,036...64,750,171 		JBrowse link
Congenital Infantile Lactic Acidosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pc pyruvate carboxylase ISO ClinVar Annotator: match by term: Congenital lactic acidosis ClinVar PMID:28492532 PMID:32581362 NCBI chr 1:211,228,708...211,327,792
Ensembl chr 1:211,228,731...211,329,940 		JBrowse link
G Pet100 PET100 cytochrome c oxidase chaperone ISO ClinVar Annotator: match by term: Congenital lactic acidosis ClinVar PMID:25293719 PMID:25741868 NCBI chr12:6,477,703...6,480,435
Ensembl chr12:6,477,777...6,480,431 		JBrowse link
G Ppp1r12b protein phosphatase 1, regulatory subunit 12B ISO ClinVar Annotator: match by term: Congenital lactic acidosis ClinVar NCBI chr13:46,199,418...46,397,108
Ensembl chr13:48,751,477...48,948,922 		JBrowse link
G Stxbp2 syntaxin binding protein 2 ISO ClinVar Annotator: match by term: Congenital lactic acidosis ClinVar PMID:25293719 PMID:25741868 NCBI chr12:6,487,265...6,498,351
Ensembl chr12:6,487,297...6,504,212 		JBrowse link
Congenital Infantile Lactic Acidosis due to LAD Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dld dihydrolipoamide dehydrogenase ISO ClinVar Annotator: match by term: DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY | ClinVar Annotator: match by term: DLD DEFICIENCY | ClinVar Annotator: match by term: Lipoamide dehydrogenase deficiency, lactic acidosis due to | ClinVar Annotator: match by term: MAPLE SYRUP URINE DISEASE, TYPE III
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1347528 PMID:1640293 PMID:3769994 PMID:7797549 PMID:8506365 More... NCBI chr 6:53,631,686...53,655,059
Ensembl chr 6:53,619,631...53,652,354 		JBrowse link
G Slc26a3 solute carrier family 26 member 3 ISO ClinVar Annotator: match by term: Lipoamide dehydrogenase deficiency, lactic acidosis due to ClinVar PMID:8968745 PMID:9934985 PMID:28492532 NCBI chr 6:53,751,415...53,792,300
Ensembl chr 6:53,751,415...53,792,294 		JBrowse link
GRACILE syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO
ISS 		ClinVar Annotator: match by term: GRACILE syndrome
OMIM:603358
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:9545407 PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 More... NCBI chr 9:83,614,045...83,618,052
Ensembl chr 9:83,613,975...83,618,257 		JBrowse link
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lars2 leucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia | ClinVar Annotator: match by term: LARS2-related condition OMIM
ClinVar		 PMID:23541342 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26537577 More... NCBI chr 8:131,887,728...131,983,866
Ensembl chr 8:131,887,753...131,983,866 		JBrowse link
Hyperglycinemia, Lactic Acidosis, and Seizures term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apbb2 amyloid beta precursor protein binding family B member 2 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:41,849,638...42,232,930
Ensembl chr14:41,911,785...42,232,280 		JBrowse link
G Chrna9 cholinergic receptor nicotinic alpha 9 subunit ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:42,588,948...42,595,669
Ensembl chr14:42,588,948...42,595,669 		JBrowse link
G Fam114a1 family with sequence similarity 114, member A1 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:43,629,349...43,699,800
Ensembl chr14:43,629,375...43,699,800 		JBrowse link
G Klb klotho beta ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:43,253,963...43,304,532
Ensembl chr14:43,253,255...43,304,515 		JBrowse link
G Klhl5 kelch-like family member 5 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:43,497,915...43,565,833
Ensembl chr14:43,497,918...43,537,894 		JBrowse link
G Lias lipoic acid synthetase ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES | ClinVar Annotator: match by term: LIAS-related condition OMIM
ClinVar		 PMID:2152680 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22152680 More... NCBI chr14:43,230,369...43,247,469
Ensembl chr14:43,230,375...43,247,423 		JBrowse link
G Limch1 LIM and calponin homology domains 1 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:41,466,433...41,779,477
Ensembl chr14:41,466,433...41,778,837 		JBrowse link
G N4bp2 NEDD4 binding protein 2 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:42,696,415...42,819,535
Ensembl chr14:42,763,601...42,825,039 		JBrowse link
G Nsun7 NOP2/Sun RNA methyltransferase family member 7 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:42,233,062...42,289,013
Ensembl chr14:42,233,062...42,288,958 		JBrowse link
G Pds5a PDS5 cohesin associated factor A ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:42,905,734...43,004,740
Ensembl chr14:42,905,328...43,004,740 		JBrowse link
G Phox2b paired-like homeobox 2b ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:41,420,011...41,424,527
Ensembl chr14:41,420,011...41,424,494 		JBrowse link
G Rbm47 RNA binding motif protein 47 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:42,407,226...42,545,304
Ensembl chr14:42,466,335...42,543,163 		JBrowse link
G Rfc1 replication factor C subunit 1 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:43,319,768...43,395,028
Ensembl chr14:43,319,935...43,395,026 		JBrowse link
G Rhoh ras homolog family member H ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:42,694,860...42,725,690
Ensembl chr14:42,693,413...42,749,967 		JBrowse link
G Rpl9 ribosomal protein L9 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:43,247,536...43,250,784
Ensembl chr14:43,247,588...43,250,782
Ensembl chr 1:43,247,588...43,250,782 		JBrowse link
G Smim14 small integral membrane protein 14 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:42,783,361...42,829,762
Ensembl chr14:43,136,867...43,183,416 		JBrowse link
G Tlr1 toll-like receptor 1 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:43,737,761...43,750,389
Ensembl chr14:43,740,379...43,756,243 		JBrowse link
G Tlr10 toll-like receptor 10 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:43,758,940...43,768,352
Ensembl chr14:43,759,827...43,768,351 		JBrowse link
G Tlr6 toll-like receptor 6 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:43,715,809...43,727,019
Ensembl chr14:43,698,751...43,740,462 		JBrowse link
G Tmem156 transmembrane protein 156 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:43,568,131...43,606,109
Ensembl chr14:43,577,023...43,606,109 		JBrowse link
G Ube2k ubiquitin-conjugating enzyme E2K ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:43,011,681...43,077,825
Ensembl chr14:43,011,681...43,072,462 		JBrowse link
G Uchl1 ubiquitin C-terminal hydrolase L1 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:41,838,859...41,849,743
Ensembl chr14:41,838,861...41,849,417 		JBrowse link
G Ugdh UDP-glucose 6-dehydrogenase ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:43,202,480...43,226,002
Ensembl chr14:43,202,356...43,226,629 		JBrowse link
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:43,396,130...43,460,012
Ensembl chr14:43,397,835...43,459,939 		JBrowse link
mitochondrial DNA depletion syndrome 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Suclg1 succinate-CoA ligase GDP/ADP-forming subunit alpha ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 9 | ClinVar Annotator: match by term: SUCLG1-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17668387 PMID:19526370 More... NCBI chr 4:106,866,329...106,895,686
Ensembl chr 4:106,866,114...106,895,689 		JBrowse link
G Suclg2 succinate-CoA ligase GDP-forming subunit beta ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 9 ClinVar NCBI chr 4:129,623,833...129,893,937
Ensembl chr 4:129,623,834...129,937,296 		JBrowse link
Mitochondrial Myopathy with Lactic Acidosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnpla8 patatin-like phospholipase domain containing 8 ISO ClinVar Annotator: match by term: PNPLA8-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:25741868 PMID:28492532 NCBI chr 6:67,056,783...67,118,714
Ensembl chr 6:67,056,697...67,120,512 		JBrowse link
mitochondrial pyruvate carrier deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpc1 mitochondrial pyruvate carrier 1 ISO ClinVar Annotator: match by term: MPC1-related condition | ClinVar Annotator: match by term: Mitochondrial pyruvate carrier deficiency OMIM
ClinVar		 PMID:12649063 PMID:22628558 PMID:25741868 PMID:28492532 NCBI chr 1:54,985,305...54,996,979
Ensembl chr 1:54,985,301...54,997,064 		JBrowse link
Myopathy with Lactic Acidosis, Hereditary term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iscu iron-sulfur cluster assembly enzyme ISO ClinVar Annotator: match by term: ISCU-related condition | ClinVar Annotator: match by term: MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY | ClinVar Annotator: match by term: Myopathy with lactic acidosis, hereditary
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:18296749 PMID:18304497 PMID:19567699 PMID:19846308 PMID:20206689 More... NCBI chr12:48,512,852...48,518,696
Ensembl chr12:48,512,852...48,518,696 		JBrowse link
Pyruvate Dehydrogenase E1 Alpha Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg2 adhesion G protein-coupled receptor G2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9618178 PMID:9837815 PMID:10679936 PMID:14564667 PMID:17172462 More... NCBI chr  X:38,106,067...38,231,286
Ensembl chr  X:38,106,067...38,231,331 		JBrowse link
G Bclaf3 BCLAF1 and THRAP3 family member 3 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:19414485 More... NCBI chr  X:39,065,842...39,137,521
Ensembl chr  X:39,072,840...39,137,448 		JBrowse link
G Bend2 BEN domain containing 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:19414485 More... NCBI chr  X:36,997,518...37,093,363
Ensembl chr  X:36,999,265...37,089,782 		JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9618178 PMID:9837815 PMID:10679936 PMID:14564667 PMID:17172462 More... NCBI chr  X:37,566,320...37,796,766
Ensembl chr  X:37,566,378...37,796,760 		JBrowse link
G Eif1ax eukaryotic translation initiation factor 1A, X-linked ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:19414485 More... NCBI chr  X:39,307,320...39,322,023
Ensembl chr  X:39,307,137...39,322,021 		JBrowse link
G Map3k15 mitogen-activated protein kinase kinase kinase 15 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:19414485 More... NCBI chr  X:38,522,143...38,667,746
Ensembl chr  X:38,521,183...38,667,676 		JBrowse link
G Map7d2 MAP7 domain containing 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:19414485 More... NCBI chr  X:39,181,091...39,296,814
Ensembl chr  X:39,181,091...39,296,695 		JBrowse link
G Nhs NHS actin remodeling regulator ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:19414485 More... NCBI chr  X:36,185,067...36,524,711
Ensembl chr  X:36,438,178...36,524,708 		JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:1293379 PMID:1301207 PMID:1338114 PMID:1508605 PMID:1770778 More... NCBI chr  X:38,509,158...38,522,986
Ensembl chr  X:38,509,084...38,522,536 		JBrowse link
G Pdhx pyruvate dehydrogenase complex, component X ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:109,826,579...109,886,869
Ensembl chr 3:109,827,209...109,886,905 		JBrowse link
G Phka2 phosphorylase kinase regulatory subunit alpha 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9618178 PMID:9837815 PMID:10679936 PMID:14564667 PMID:17172462 More... NCBI chr  X:37,979,629...38,102,656
Ensembl chr  X:37,979,629...38,102,144 		JBrowse link
G Ppef1 protein phosphatase with EF-hand domain 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9618178 PMID:9837815 PMID:10679936 PMID:14564667 PMID:17172462 More... NCBI chr  X:37,803,204...37,960,378
Ensembl chr  X:37,830,055...37,960,375 		JBrowse link
G Rai2 retinoic acid induced 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:19414485 More... NCBI chr  X:36,580,406...36,642,943
Ensembl chr  X:36,573,917...36,643,240 		JBrowse link
G Rps6ka3 ribosomal protein S6 kinase A3 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:19414485 More... NCBI chr  X:39,325,926...39,432,017
Ensembl chr  X:39,325,926...39,433,678 		JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9618178 PMID:9837815 PMID:10679936 PMID:14564667 PMID:17172462 More... NCBI chr  X:37,771,135...37,800,894
Ensembl chr  X:37,771,135...37,800,894 		JBrowse link
G Scml1 Scm polycomb group protein like 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:19414485 More... NCBI chr  X:36,526,068...36,543,336
Ensembl chr  X:36,526,068...36,544,450 		JBrowse link
G Scml2 Scm polycomb group protein like 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:19414485 More... NCBI chr  X:37,331,893...37,486,465
Ensembl chr  X:37,334,841...37,439,276 		JBrowse link
G Sh3kbp1 SH3 domain-containing kinase-binding protein 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:19414485 More... NCBI chr  X:38,686,530...39,031,658
Ensembl chr  X:38,686,530...39,031,393 		JBrowse link
Pyruvate Dehydrogenase E2 Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg9 ALG9, alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:60,013,429...60,085,159
Ensembl chr 8:60,009,618...60,085,054 		JBrowse link
G Bco2 beta-carotene oxygenase 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:59,778,571...59,803,597
Ensembl chr 8:59,778,575...59,799,168 		JBrowse link
G Btg4 BTG anti-proliferation factor 4 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:60,307,090...60,322,167
Ensembl chr 8:60,317,121...60,322,167 		JBrowse link
G C8h11orf52 similar to human chromosome 11 open reading frame 52 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:59,977,717...59,984,706
Ensembl chr 8:59,976,623...59,990,901 		JBrowse link
G Cfap68 cilia and flagella associated protein 68 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:60,004,034...60,009,782
Ensembl chr 8:60,004,034...60,009,667 		JBrowse link
G Cryab crystallin, alpha B ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:59,989,885...59,995,532
Ensembl chr 8:59,989,814...59,995,528 		JBrowse link
G Dixdc1 DIX domain containing 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:59,904,218...59,977,595
Ensembl chr 8:59,904,218...59,978,447 		JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency 		OMIM
CTD
ClinVar		 PMID:9536098 PMID:16049940 PMID:16199547 PMID:17576681 PMID:20022530 More... NCBI chr 8:59,875,537...59,900,947
Ensembl chr 8:59,868,214...59,900,818
Ensembl chr 1:59,868,214...59,900,818 		JBrowse link
G Fdxacb1 ferredoxin-fold anticodon binding domain containing 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:60,009,818...60,014,625 JBrowse link
G Hoatz HOATZ cilia and flagella associated protein ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:60,284,745...60,306,687
Ensembl chr 8:60,283,904...60,305,377 		JBrowse link
G Hspb2 heat shock protein family B (small) member 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:59,989,640...59,991,215
Ensembl chr 8:59,976,623...59,990,901 		JBrowse link
G Il18 interleukin 18 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:59,802,072...59,829,275
Ensembl chr 8:59,809,592...59,831,286 		JBrowse link
G Layn layilin ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:60,261,325...60,280,797
Ensembl chr 8:60,263,456...60,281,418 		JBrowse link
G Mir34b microRNA 34b ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:60,306,609...60,306,692 JBrowse link
G Mir34c microRNA 34c ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:60,306,091...60,306,167 JBrowse link
G Nkapd1 NKAP domain containing 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:59,852,037...59,863,295
Ensembl chr 8:59,852,726...59,863,181 		JBrowse link
G Pih1d2 PIH1 domain containing 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:9536098 PMID:16049940 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 8:59,863,271...59,871,465
Ensembl chr 8:59,862,899...59,887,927 		JBrowse link
G Pou2af1 POU class 2 homeobox associating factor 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:60,418,173...60,445,176
Ensembl chr 8:60,436,844...60,445,176 		JBrowse link
G Pou2af3 POU class 2 homeobox associating factor 3 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:60,484,596...60,493,475
Ensembl chr 8:60,484,596...60,493,821 		JBrowse link
G Ppp2r1b protein phosphatase 2 scaffold subunit A beta ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:60,092,540...60,125,512
Ensembl chr 8:60,081,553...60,125,795 		JBrowse link
G Pts 6-pyruvoyl-tetrahydropterin synthase ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:59,767,234...59,774,265
Ensembl chr 8:59,765,185...59,774,265 		JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:59,841,090...59,850,641
Ensembl chr 8:59,841,090...59,850,641 		JBrowse link
G Sik2 salt-inducible kinase 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:60,121,913...60,221,707
Ensembl chr 8:60,121,913...60,221,818 		JBrowse link
G Tex12 testis expressed 12 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:50,908,161...50,913,202
Ensembl chr 8:59,804,662...59,813,423 		JBrowse link
G Timm8b translocase of inner mitochondrial membrane 8 homolog B ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:59,850,737...59,852,117
Ensembl chr 8:59,850,728...59,852,962 		JBrowse link
Pyruvate Dehydrogenase E3-Binding Protein Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apip APAF1 interacting protein ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E3-binding protein deficiency ClinVar PMID:25741868 NCBI chr 3:109,886,919...109,913,295
Ensembl chr 3:109,886,953...109,915,862 		JBrowse link
G Pdhx pyruvate dehydrogenase complex, component X ISO ClinVar Annotator: match by term: PDHX-related condition | ClinVar Annotator: match by term: Pyruvate dehydrogenase E3-binding protein deficiency
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:8229524 PMID:8584393 PMID:9399911 PMID:9467010 PMID:11935326 More... NCBI chr 3:109,826,579...109,886,869
Ensembl chr 3:109,827,209...109,886,905 		JBrowse link
Pyruvate Dehydrogenase Phosphatase Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdhb pyruvate dehydrogenase E1 subunit beta ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase phosphatase deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr15:19,182,789...19,188,731
Ensembl chr15:19,181,208...19,188,976 		JBrowse link
G Pdp1 pyruvate dehydrogenase phosphatase catalytic subunit 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: PDP1-related condition | ClinVar Annotator: match by term: Pyruvate dehydrogenase phosphatase deficiency 		OMIM
CTD
ClinVar		 PMID:15855260 PMID:19184109 PMID:25741868 PMID:28492532 PMID:31392110 NCBI chr 5:30,245,699...30,252,494
Ensembl chr 5:30,242,704...30,253,960 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Nutritional and Metabolic Diseases 8574
      disease of metabolism 8574
        acquired metabolic disease 2573
          metabolic acidosis 116
            lactic acidosis 98
              Congenital Infantile Lactic Acidosis + 7
              Defect of Tricarboxylic Acid Cycle 0
              GRACILE syndrome 1
              Hyperglycinemia, Lactic Acidosis, and Seizures 24
              Lactic Acidosis, Chronic Adult Form 0
              Maple Syrup Urine Disease, E3 Deficient, with Lactic Acidosis 0
              Mitochondrial Myopathy with Lactic Acidosis 1
              Myopathy with Lactic Acidosis, Hereditary 1
              Pyruvate Dehydrogenase E1 Alpha Deficiency 18
              Pyruvate Dehydrogenase E2 Deficiency 25
              Pyruvate Dehydrogenase E3-Binding Protein Deficiency 2
              Pyruvate Dehydrogenase Phosphatase Deficiency 2
              combined oxidative phosphorylation deficiency 2 1
              combined oxidative phosphorylation deficiency 3 2
              mitochondrial DNA depletion syndrome 9 2
              mitochondrial pyruvate carrier deficiency 1
Path 2
Term Annotations click to browse term
  disease 19167
    Nutritional and Metabolic Diseases 8574
      disease of metabolism 8574
        Acid-Base Imbalance 158
          Acidoses 149
            metabolic acidosis 116
              lactic acidosis 98
                Congenital Infantile Lactic Acidosis + 7
                Defect of Tricarboxylic Acid Cycle 0
                GRACILE syndrome 1
                Hyperglycinemia, Lactic Acidosis, and Seizures 24
                Lactic Acidosis, Chronic Adult Form 0
                Maple Syrup Urine Disease, E3 Deficient, with Lactic Acidosis 0
                Mitochondrial Myopathy with Lactic Acidosis 1
                Myopathy with Lactic Acidosis, Hereditary 1
                Pyruvate Dehydrogenase E1 Alpha Deficiency 18
                Pyruvate Dehydrogenase E2 Deficiency 25
                Pyruvate Dehydrogenase E3-Binding Protein Deficiency 2
                Pyruvate Dehydrogenase Phosphatase Deficiency 2
                combined oxidative phosphorylation deficiency 2 1
                combined oxidative phosphorylation deficiency 3 2
                mitochondrial DNA depletion syndrome 9 2
                mitochondrial pyruvate carrier deficiency 1
paths to the root